1. Mary Jo Bowie MS, BS, AAS, RHIA, RHIT

2. Congenital Malformations, Deformations, and Chromosomal Abnormalities
CHAPTER 22
Congenital Malformations, Deformations, and Chromosomal Abnormalities

3. Congenital Malformations, Deformations, and Chromosomal Abnormalities—Q00-Q99
Congenital malformations, deformations, and chromosomal abnormalities are reported from Chapter 17 of ICD-10-CM.
A congenital anomaly is a disorder that exists at the time of birth.

4. Terminology Deformity—A problem in the structure or form
Anomaly or birth defect—A deviation from what is normal
Teratogens—Agents that cause defects in an embryo

5. Congenital Malformations of the Nervous System—Q00-Q07
This block reports:
Anencephaly and similar malformations
Encephalocele
Microcephaly
Congenital hydrocephalus and other malformations of the brain
Spina bifida and other spinal cord malformations

6. Congenital Malformations of Eye, Ear, Face, and Neck—Q10-Q18
This block of codes reports such conditions as:
Congenital ectropion
Congenital cataract
Congenital glaucoma
Congenital absence of eustachian tube
Malformations of sinus
Webbing of neck
Other malformations of eyes, ears, face, and neck

7. Congenital Malformations of the Circulatory System—Q20-Q28
Congenital malformations reported here are
categorized according to specific sites of the
circulatory system.
Coders must determine the specific site of
the circulatory system malformation prior to
code selection.

8. Congenital Malformations of the Respiratory System—Q30-Q34
This block of codes is organized according to
specific anatomical sites of the respiratory
system.
Malformations reported here include:
Congenital cystic lung
Agenesis of lung
Congenital cyst of mediastium
Congenital laryngocele
Congenital anomaly of nasal sinus wall

9. Cleft Lip and Cleft Palate—Q35-Q37
This block of codes reports:
Cleft palate—Q35
Cleft lip—Q36
Cleft palate with cleft lip—Q37

10. Other Congenital Malformations of the Digestive System—Q38-Q45
The categories here are organized by anatomical
site as follows:
Q38—Tongue, mouth and pharynx
Q39—Esophagus
Q40—Upper alimentary tract
Q41—Small intestine
Q42—Large intestine
Q43—Intestine
Q44—Gallbladder, bile ducts, and liver
Q45—Other sites of digestive system

11. Congenital Malformations of Genital System—Q50-Q56
These categories are organized as follows:
Q50—Ovaries, fallopian tubes, and broad ligaments
Q51—Uterus and cervix
Q52—Other sites of the female genitalia
Q53—Undescended and ectopic testicle
Q54—Hypospadias
Q55—Other male genital organs
Q56- Indeterminate sex and pseudohermaphroditism

12. Congenital Malformations of the Urinary System—Q60-Q64
This block is organized as follows:
Q60—Renal agenesis and other reduction defects of kidney
Q61—Cystic kidney disease
Q62—Congenital obstructive defects of renal pelvis and ureter
Q63—Other congenital kidney malformations
Q64—Other congenital malformations of urinary system

13. Polycystic Kidney Disease
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14. Congenital Malformations and Deformations of the Musculoskeletal System—Q65-79
This block of codes is organized according
to the various anatomical sites of the
musculoskeletal system.
Laterality is identified in many of the codes.

15. Other Congenital Malformations—Q80-Q89
This block reports such conditions as congenital:
Malformations of breast, skin, and integument
Fetal alcohol syndrome
Multiple system syndromes
Other malformations not classified elsewhere

16. Chromosomal Abnormalities, NEC—Q90-Q99
This block reports the following conditions:
Down syndrome
Trisomy 18 and 13
Other trisomies
Balanced rearrangements and structural markers
Sex chromosome abnormalities
Other chromosome abnormalities

17. Official Guidelines for Coding and Reporting
The guidelines address the following:
Assignment of codes from Q00-Q99
Assignment of manifestation codes
Codes from Chapter 17 can be used throughout the life of the patient
Assignment of Chapter 17 codes for birth admission

18. Coding Practice Select the code for the following:
Congenital aplasia of aorta

19. Coding Practice Solution
Main term to reference in index:
Aplasia
Modifying term:
Aorta (congenital)
Code Assignment:
Q25.4